Zobrazeno 1 - 10
of 268
pro vyhledávání: '"NOTCH2NLC"'
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundNeuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disorder characterized by the formation of eosinophilic inclusions in the neurons, visceral and skin cells. The cause is associated with the GGC nucleotide repeat expansi
Externí odkaz:
https://doaj.org/article/9e50313832c84296a9cfb6f3ba2911e6
Publikováno v:
Jichu yixue yu linchuang, Vol 43, Iss 12, Pp 1778-1783 (2023)
Objective To identify the pathogenic variants in 110 patients with essential tremor (ET). Methods Clinical data and peripheral blood samples of ET patients were collected from the Department of Neurology of Peking Union Medical College Hospital and t
Externí odkaz:
https://doaj.org/article/f104942b2bc745ebb0a893ce87588b3d
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundInfant, junior, and adult patients with neuronal intranuclear inclusion disease (NIID) present with various types of seizures. We aimed to conduct a systematic literature review on the clinical characteristics of NIID with seizures to provi
Externí odkaz:
https://doaj.org/article/ae1f2b457bb34f87a793e1ecacbdfbd4
Autor:
Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu
Publikováno v:
Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by widespread intranuclear inclusions in the nervous system as well as multiple visceral organs. In 2019, expanded GGC repeats withi
Externí odkaz:
https://doaj.org/article/8767305a81f74d1291f3120b40d47fd2
Autor:
Chaoyi Feng, Qian Chen, Xinghua Luan, Ping Sun, Yuwen Cao, Jingying Wu, Shige Wang, Xinghuai Sun, Li Cao, Guohong Tian
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
PurposeTo evaluate adult-onset neuronal intranuclear inclusion disease (NIID)-related retinopathy with guanine-guanine-cytosine repeat expansions in NOTCH2NLC.Materials and methodsNeuro-ophthalmic evaluations, including best-corrected visual acuity,
Externí odkaz:
https://doaj.org/article/3b6a2c7ee2f74422a920d4a3343725e5
Autor:
Hui Wang, Yilei Zheng, Jiaxi Yu, Lingchao Meng, Wei Zhang, Daojun Hong, Zhaoxia Wang, Yun Yuan, Jianwen Deng
Publikováno v:
Neurobiology of Disease, Vol 190, Iss , Pp 106391- (2024)
CGG repeat expansion in NOTCH2NLC is the genetic cause of neuronal intranuclear inclusion disease (NIID). Previous studies indicated that the CGG repeats can be translated into polyglycine protein (N2CpolyG) which was toxic to neurons by forming intr
Externí odkaz:
https://doaj.org/article/f3416ec7f874433e9f18c16017094b5e
Autor:
Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-14 (2023)
Abstract The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy
Externí odkaz:
https://doaj.org/article/0a9194f661ae43bba7ecee7add442f73
Publikováno v:
Cells, Vol 13, Iss 8, p 677 (2024)
The discovery of hexanucleotide repeats expansion (RE) in Chromosome 9 Open Reading frame 72 (C9orf72) as the major genetic cause of amyotrophic lateral sclerosis (ALS) and the association between intermediate repeats in Ataxin-2 (ATXN2) with the dis
Externí odkaz:
https://doaj.org/article/a1839d92063748a1b6a6b45e4f17ed9b
Autor:
Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-7 (2022)
Abstract Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap, we evaluated the muscle biopsy
Externí odkaz:
https://doaj.org/article/bf430c0312ca4de89b480b931a09d9f1
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundHigh signals on diffusion weighted imaging along the corticomedullary junction (CMJ) have demonstrated excellent diagnostic values for adult-onset neuronal intranuclear inclusion disease (NIID). However, the longitudinal course of diffusion
Externí odkaz:
https://doaj.org/article/a5ea299bc25347e7966f746dc45af87f